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Select item 12261101.

Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome

Karin Buiting, Angela Barnicoat, Christina Lich, Marcus Pembrey, Sue Malcolm, Bernhard Horsthemke

Am J Hum Genet. 2001 May; 68(5): 1290–1294. Published online 2001 Mar 23. doi: 10.1086/320120

PMCID:: PMC1226110

Abstract Article PDF–229K

Select item 111360052.

Molecular epigenetics of Angelman syndrome

M. Lalande, M. A. Calciano

Cell Mol Life Sci. 2007 Apr; 64(7-8): 947. Published online 2007 Mar 8. doi: 10.1007/s00018-007-6460-0

PMCID:: PMC11136005

Abstract Article PDF–304K

Select item 17159123.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

J M Conroy, T A Grebe, L A Becker, K Tsuchiya, R D Nicholls, K Buiting, B Horsthemke, S B Cassidy, S Schwartz

Am J Hum Genet. 1997 Aug; 61(2): 388–394. doi: 10.1086/514852

PMCID:: PMC1715912

Summary Page Browse PDF–1.5M

Select item 17125104.

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

V Greger, J H Knoll, J Wagstaff, E Woolf, P Lieske, H Glatt, P A Benn, S S Rosengren, M Lalande

Am J Hum Genet. 1997 Mar; 60(3): 574–580.

PMCID:: PMC1712510

Summary Page Browse PDF–1.3M

Select item 16837595.

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

J H Knoll, R D Nicholls, R E Magenis, K Glatt, J M Graham, Jr, L Kaplan, M Lalande

Am J Hum Genet. 1990 Jul; 47(1): 149–155.

PMCID:: PMC1683759

Summary Page Browse PDF–1.2M

Select item 16833056.

Localization of the gene encoding the GABAA receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15

J. Wagstaff, J. H. M. Knoll, J. Fleming, E. F. Kirkness, A. Martin-Gallardo, F. Greenberg, J. M. Graham, J. Menninger, D. Ward, J. C. Venter, M. Lalande

Am J Hum Genet. 1991 Aug; 49(2): 330–337.

PMCID:: PMC1683305

Summary Page Browse PDF–1.3M

Select item 16827637.

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.

J H Knoll, K A Glatt, R D Nicholls, S Malcolm, M Lalande

Am J Hum Genet. 1991 Jan; 48(1): 16–21.

PMCID:: PMC1682763

Summary Page Browse PDF–1.0M

Select item 16822168.

Linkage analysis in familial Angelman syndrome.

J Wagstaff, Y Y Shugart, M Lalande

Am J Hum Genet. 1993 Jul; 53(1): 105–112.

PMCID:: PMC1682216

Summary Page Browse PDF–1.2M

Select item 16199449.

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain

Mei-Yi Wu, Ting-Fen Tsai, Arthur L. Beaudet

Genes Dev. 2006 Oct 15; 20(20): 2859–2870. doi: 10.1101/gad.1452206

PMCID:: PMC1619944

Abstract Article PDF–926K

Select item 137793610.

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

J M Amos-Landgraf, Y Ji, W Gottlieb, T Depinet, A E Wandstrat, S B Cassidy, D J Driscoll, P K Rogan, S Schwartz, R D Nicholls

Am J Hum Genet. 1999 Aug; 65(2): 370–386. doi: 10.1086/302510

PMCID:: PMC1377936

Summary PDF–989K

Select item 137775011.

Imprinting-mutation mechanisms in Prader-Willi syndrome.

T Ohta, T A Gray, P K Rogan, K Buiting, J M Gabriel, S Saitoh, B Muralidhar, B Bilienska, M Krajewska-Walasek, D J Driscoll, B Horsthemke, M G Butler, R D Nicholls

Am J Hum Genet. 1999 Feb; 64(2): 397–413. doi: 10.1086/302233

PMCID:: PMC1377750

Summary PDF–718K

Select item 137774912.

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

T Ohta, K Buiting, H Kokkonen, S McCandless, S Heeger, H Leisti, D J Driscoll, S B Cassidy, B Horsthemke, R D Nicholls

Am J Hum Genet. 1999 Feb; 64(2): 385–396. doi: 10.1086/302232

PMCID:: PMC1377749

Summary PDF–574K

Select item 137725513.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

K Buiting, B Dittrich, S Gross, C Lich, C Färber, T Buchholz, E Smith, A Reis, J Bürger, M M Nöthen, U Barth-Witte, B Janssen, D Abeliovich, I Lerer, A M van den Ouweland, D J Halley, C Schrander-Stumpel, H Smeets, P Meinecke, S Malcolm, A Gardner, M Lalande, R D Nicholls, K Friend, A Schulze, G Matthijs, H Kokkonen, P Hilbert, L Van Maldergem, G Glover, P Carbonell, P Willems, G Gillessen-Kaesbach, B Horsthemke

Am J Hum Genet. 1998 Jul; 63(1): 170–180. doi: 10.1086/301935